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Challenges of Enzyme Replacement Therapy for Sanfilippo Syndrome

key information

source: BioNews, Inc.

year: 2020


What Is Enzyme Replacement Therapy?

Enzyme replacement therapy (ERT) involves treating patients by supplying the enzyme or enzymes that they can’t make themselves. These enzymes are usually recombinant proteins, meaning that they are made artificially (in the laboratory) rather than being isolated, for example, from blood.

ERT and Sanfilippo Syndrome

Several challenges must be addressed for ERT to be effective in Sanfilippo syndrome.

First, a Sanfilippo patient could be missing several enzymes. Therefore, doctors must test each patient to be sure which enzymes they aren’t able to make.

Second, recombinant proteins are not available as a pill, tablet or oral liquid that patients can take at home. This is because the digestive system would break down the proteins before they could make it to the bloodstream or the brain.

The third and final challenge is that Sanfilippo syndrome primarily affects the nervous system, so any treatment has to reach the brain. ERT infusions into the bloodstream would not be effective, because of the blood-brain barrier. This barrier consists of endothelial cells in blood vessels of the brain that protect the it by blocking the free movement of blood-borne molecules, cells and the like.


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